{
  "id": 12307,
  "label": "Thiel-Behnke corneal dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011185",
  "properties": {
    "xrefs": [
      "DOID:0060455",
      "GARD:0009275",
      "ICD9:371.52",
      "MEDGEN:287070",
      "MESH:C535942",
      "OMIM:602082",
      "Orphanet:98960",
      "SCTID:417065002",
      "UMLS:C1562894",
      "icd11.foundation:2082568100"
    ],
    "synonyms": [
      "TBCD",
      "Thiel-Behnke corneal dystrophy",
      "Waardenburg-Jonker corneal dystrophy",
      "anterior limiting membrane dystrophy type 2",
      "anterior limiting membrane dystrophy type II",
      "corneal dystrophy of Bowman layer type 2",
      "corneal dystrophy of Bowman layer type II",
      "curly fiber corneal dystrophy",
      "curly fibre corneal dystrophy",
      "honeycomb corneal dystrophy",
      "CDB2",
      "CDTB",
      "Thiel Behnke corneal dystrophy",
      "corneal dystrophy Thiel Behnke type",
      "corneal dystrophy honeycomb shaped",
      "corneal dystrophy of Bowman Layer, type 2",
      "corneal dystrophy of the Bowman layer type 2",
      "corneal dystrophy, Thiel-Behnke type",
      "corneal dystrophy, honeycomb-Shaped"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3131,
      "label": "epithelial-stromal TGFBI dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060441",
          "GARD:0022827"
        ],
        "synonyms": [
          "TGFBI corneal dystrophy (disease)",
          "corneal dystrophy (disease) caused by mutation in TGFBI"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene."
      },
      "child_count": 16,
      "reference_id": "MONDO:0000764"
    },
    {
      "id": 19762,
      "label": "superficial corneal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:371.52",
          "MEDGEN:746687",
          "Orphanet:98625",
          "SCTID:430888006",
          "UMLS:C2315777"
        ],
        "synonyms": [
          "anterior corneal dystrophy",
          "corneal epithelium corneal dystrophy (disease)",
          "dystrophy of anterior cornea"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy."
      },
      "child_count": 12,
      "reference_id": "MONDO:0020212"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3131,
      "label": "epithelial-stromal TGFBI dystrophy"
    },
    {
      "id": 19762,
      "label": "superficial corneal dystrophy"
    }
  ]
}